I had so many plans for May – which is Ehlers-Danlos Syndrome awareness month, and it’s just all gone by in a flash of bad health, hospital appointments and glass making.
Fused glass making is a new hobby I’ve got into, and I’m really enjoying it. If you’re interested in seeing my new makes I have a facebook page and a Folksy shop (the UK equivalent of Etsy). I’m also running a competition to win a Dotty Suncatcher at Facebook as soon as my page reaches 100 likes. It’s difficult starting a new page from scratch, so any support there would be really appreciated.
Teal Dish with Clear Detailing, Spotty Suncatcher and Black and Gold Pendant
I’ve been making jewellery for awhile, and have wanted to try glass making as something that would go nicely with it (i.e. making pendants/jewellery out of glass), but also being able to branch into something different like dishes, candle holders, etc. I find the jewellery making market quite saturated, and difficult to stand out. Not that I would ever be well enough to make a business out of my crafts, they all remain hobbies, but it’s still nice to sell the odd thing to be able to pay for my glass or beads!
I’ve spent most of my month having medical appointments, including having some awful tests on my bladder – which I will never ever have again. They all came back clear for blockages/cysts, which means it’s down to spasms probably caused by the Ehlers-Danlos Syndrome, so the next step will be medication.
I’ve also been to Cambridge to visit the biggest sleep specialist clinic in the UK. I’ve had problems with my sleep since I was 15 – from severe bouts of insomnia, sleep patterns all over the place, horrible levels of fatigue, day-time sleepiness, and unrefreshing sleep. I got put in the wrong clinic – I should have seen the consultant as it’s the EDS causing the problems, and the autonomic dysfunction and adrenaline issues that go along-side the condition. Instead I got put in the nurse-led insomnia clinic, where they give sleep hygiene advise, such as go to bed at the same time, have a dark room, etc. I know. I’ve had this problem for twelve years, I’ve tried all the basics. This visit was an end-of-my-tether, absolutely desperate need for real medical help. Luckily the nurse did seem to understand my point, so I’m going back next month for a sleep study test which will hopefully be a start, at least.
For the last year I’ve been trying so hard with exercises tailored towards my condition. For sometime I’ve stumbled along seeing physiotherapists who know nothing about my condition, and having a six-week block of hydrotherapy every few years. So sometime ago I decided to put my foot down, and get some real help.
I found a physiotherapist who specialises in EDS, a rarity indeed. His clinic is in another town, but the way he does things means I don’t have to visit that often – he gives me lots to keep going on my own, and does progress checks. I also started doing 1-2-1 Pilates sessions. I’ve tried this a few times – joining a class, or going to the physiotherapy-led Pilates sessions at my local hospital. Both were total disasters, and were aimed at people way healthier than me. Even the hospital ones which I thought were for people with injuries were awful – as most people in the sessions had one problem area – a bad knee, a bad shoulder. Sadly that’s way above my level, as I can’t stand for more than a few seconds, and have problems with every joint and muscle group. So I would just end up half-collapsed in the corner, rather than having effective assistance.
1-2-1 has been great – the instructor has tailored everything towards my condition and problem areas. It’s all on the mat, so no standing at all – and she breaks everything up so I’m not concentrating on one area for too long, which always leads to a flare up. What I do is very basic compared to a healthy person, but between the physiotherapy, pilates and more regular hydrotherapy, I’ve had lots of improvements physically – more muscle control and strength. Sadly it’s not translated into any pain relief at all, which has been incredibly frustrating as that’s obviously why I’m doing it. No one can tell me why it hasn’t helped in this way, but I’m not going to give up – although it really should have helped even a little by now, so I’m not sure it ever will. Hopefully it will stop things getting worse, and help prevent additional injuries though, so it still has a place.
My last piece of news, good this time, is that I’ve now completely given up my huge vice – Diet Doctor Pepper for just under six months. I’ve been trying to kick that habit for years, so I’m thrilled. I’m now a water and ice kinda gal.
So that was May. Hopefully June will bring more glass making, less medical appointments and lots of warm weather.
Credit to Kurhan
Yesterday I went to London to see Dr Hakim, one of the top specialists in Britain for Ehlers-Danlos Syndrome.
I was nervous when I got there – I always am before I see a consultant, due to many, many bad experiences. However he immediately put me at ease, and was a nice, approachable person.
I’d made a list of problems I wanted to talk about, and he made a note of them and went through each in turn giving me ideas and suggestions of particular treatments or medications I could try.
He said in terms of exercise I was doing everything right, and everything I could. This meant a lot, as I’ve had medical professionals be so judgmental with no understanding of how hard it is to do the ‘little’ I do without putting myself in bed for weeks. I told him what one Pain Consultant had said – that I should be exercising six times a day. He said it was such an easy thing to say, and proved how little he knows.
We spoke about my Physiotherapist Leon Stephens at Sudbury Physiotherapy Centre who specialises in Hypermobility, and has been great, and Dr Hakim knew of him, which was good.
At some point this year I need to renew my Employment and Support Allowance, and in the next couple of years my indefinite Disability Living Allowance award will be changed over to the replacement – Personal Independence Payment (PIP). I’m terrified about both of these, as are most disabled people in the country who currently rely on them – or may need them in the future – to survive. I never know how people may react to something like that, due all the ‘scroungers’ rhetoric in the media, that has been picked up by so many.
Since I received my diagnosis letter in 2011 – I haven’t had a decent letter from a consultant that I could use as medical evidence. I’ve seen lots of consultants, but letters are generally of the “Treatment x didn’t work, been discharged” variety which won’t help much in terms of summarising where I’m currently at on the whole. I feared the lack of letters may go against me, as the Department of Work and Pensions will argue I can’t be that bad if I don’t see a consultant regularly.
Dr Hakim was very understanding of this, and we spoke at length about the PIP changeover, and he knew how hard it was on his patients. He said it’s obvious the reason I don’t have new evidence is because I’m doing the best I can at home to manage, but he would write an updated version for me to keep on file for when I need this.
This will take a huge worry away from me, so I’m thrilled.
He recommended that I take a multivitamin daily – he mentioned the Well Woman one, to make sure I’m topping up on anything that could be contributing to my levels of fatigue. He’s also going to ask my GP to check every blood test has been done, including the T3 Thyroid test that the NHS often miss out. He also suggested getting some Melatonin from the US, as well as suggesting some other sleep and pain medications I have yet to try that he’s going to suggest to my GP to look into (I can’t remember the name of them currently!) He also recommended some consultations in other fields that I could see if I continue to get nowhere locally.
He also suggested that anyone with POTs or autonomic dysfunction (including sleep problems) to drink an Isotonic drink called Nuun. He explained that they tell people like us to keep hydrated, so we drink water – but it actually make things worse as it dilutes the salt in our blood, so our kidneys then filter it and we pass it out with urine leaving things actually worse. (Or something like that!)
So he suggested drinking a salt isotonic drink which means that we are really hydrated, as drinking liquid with a similar salt content as our blood means it will do its job, rather than being filtered and disposed of straight away. Most of the similar products on the market i.e. sports drinks, Lucozade, etc are full of crap and sugar, so he suggests Nuun as it doesn’t add much else, just some flavouring. He suggested at a minimum to drink one before bed, and one as soon as you wake up, and this should stabilise some of those issues.
They are pretty expensive, but we only need half a tablet at a time, as the whole tablets are designed for athletes.
We also spoke about Prolotherapy, which is a new therapy I’m hearing a lot about recently, mostly from Americans, and I was interested in his thoughts. He said there was no evidence for it, and some of his patients had been made worse by it.
I found Dr Hakim very understanding, kind and obviously knowledgeable. All in all it was a great appointment – and when his letter arrives I will add anything helpful I’ve forgotten!
Professor Grahame retired from NHS patients some time ago, and is no longer taking on new private patients. I believe he may still have a private clinic for under 16s, but Dr Hakim is a perfect alternative.
First of all sincere apologies for the lack of updates lately. It’s been such a busy time, that writing has fallen by the way-side a little.
I just thought I’d give you a small update about what I’ve been up to lately.
I recently wrote about the process of obtaining a Personal Budget to employ a Personal Assistant. I’ve had that in place a couple of months now, and it’s been brilliant. She’s been able to help with a range of things, from the obvious helping with care, but also driving me to appointments, getting my wheelchair out, cooking, sorting out areas I haven’t been well enough to do in my home, etc. It’s taken quite a bit of stress out of my life and I’d recommend it to anyone.
Medically I’m still very much in no-man’s land. The Pain Clinic have declared me incurable and untreatable, and discharged me. Apparently they only help people who will get better, they’re not interested in actually managing pain. My specialist consultants also are no longer able to keep me on their books due to over-subscription, so I’m consultant-less. It’s quite a scary place to be.
My GP has been trying to help with this situation, and wrote to a local Rheumatologist who lists himself as a connective tissue specialist on the hospital website. He rejected my referral, and wrote back saying, “I have no interest in managing Ehlers-Danlos Syndrome.” Although he did refer me to a Hypermobility Specialist Physiotherapist instead. Silly, silly me actually got my hopes up and thought she might be interested in working with me to move forward. Instead without any examination she declared there was nothing she could do, so I’d have my final batch of Hydrotherapy and that would be it. She then spent the rest of the session basically telling me I should be perfectly okay in the mornings, as other people with the condition manage. I tried to explain I have severe insomnia and sleep issues, and am a total mess in the mornings, but she wasn’t interested.
I then finished my final block of Hydrotherapy, which I really enjoyed. I do find the warmth means I can do much more than out of water. I would love this on a rolling-basis, and will keep trying to pester the hospital to make this happen.
I’ve also just had a sleep study done, but I’m waiting for the results. It was a machine I had to take home, that strapped to my stomach and chest, a tube went up the nose (nice!), a mask for your mouth and finally a clip for your finger. They have to rule out Sleep Apnoea before they’ll send you to a sleep consultant, but I am a little worried they’ll tell me it’s not Sleep Apnoea, and then not let me see anyone at all. Hopefully I’ll get the results soon, and this long-term issue is explored.
I have been lucky enough to find a private physiotherapist, however, that has an interest in Ehlers-Danlos Syndrome – and he genuinely does. It’s a lot of money, but the only treatment I’m now getting. He hasn’t promised he will be able to help me, but he’s going to try. If I can even maintain what little mobility I have, that would be a start. I’m diligently doing all the exercises he’s giving me (not a hurriedly printed out sheet, but thoughtfully targeting specific issues) and he’s easy to contact if things go wrong to provide advice, and alternative exercises. He really seems to know his stuff, so that’s been great.
I also recently took part in a study on Ehlers-Danlos Syndrome that’s all about what triggers the condition in the first place (obviously it’s genetic, but there is often an occurrence in your life that makes it much worse, often puberty, having children, an accident or something else. Others just have it severely from birth, so it’s exploring all of that.) The research also looks at flare-ups and the triggers.
The research sounds really interesting, and when it’s published it will obviously go into medical journals, but particularly GP and physiotherapist journals, to catch front-line staff.
One thing I truly believe is that the fight for decent rates of diagnosis lays almost entirely with GPs and Physiotherapists. They’re the ones that have to see signs, and see past one problem joint, or a history of chronic pain without a solid diagnosis and make a referral to a specialist. Once they have that awareness, only then can diagnosis rates climb.
I’m also preparing for Christmas, and this year have decided to have my first ever real Christmas Tree! I’ve also been making festive bunting with the help from my Personal Assistant, and it’s the first year in a really long time I’ve been genuinely excited for Christmas!
Please comment below to tell me your news, and whether you’re looking forward to Christmas or not?
My mum is currently having physiotherapy after an operation on her shoulder. She got chatting to her physiotherapist, and my condition came up – Ehlers-Danlos Syndrome. It turned out that the physiotherapist has a great interest in the condition, has a few patients with it, and leads the in-house training to the other physiotherapists. She invited me to come along to give a talk to them during that session.
So that’s how I ended up pretty much taking over the whole training session myself.
The idea originally was that the physiotherapist would cover the medical and exercise aspects, and I would cover the daily living aspects – but my notes grew longer and longer. This was my chance to help make things better for people with the condition, and there was so much to say!
When you speak to someone with EDS, or other complex chronic conditions you’ll often find that they have had a bad history with a physiotherapist at least once in their past, and sometimes repeatedly. (Here are just two posts talking about previous experiences here and here.) But sometimes it’s not their fault – we are well aware they have to see a lot of people in not a lot of time, and are generally encouraged to discharge as soon as possible. Many report being asked to pick one joint that is the worst, being handed a couple of exercise sheets and that being the extent of their treatment. Others, including myself, saw physiotherapists for years without them ever mentioning the hypermobility – that could have led me to that crucial diagnosis.
While I had a lot I want to say myself, I wanted to let other people with the condition have a say as well.
So I went on to a Facebook group that has over 5000 people with the condition on and asked them what they would like to say to physiotherapists if they could. From that, adding in information about our symptoms, our daily lives, the different types and so on, I built up a talk.
The way their training sessions work is that they have an hour built into the day, and all the physiotherapists who don’t have a patient at that time, come along. She expected around 4 to 5 to attend – but when I arrived I was faced with a very small office filled with around 10 physiotherapists. It wasn’t so long ago I would have immediately turned my chair around, found a toilet and locked myself in it until they all went away, but I’m very lucky that over the past few years I’ve been chairing a meeting group and have greatly gained confidence in public speaking – to a certain extent, I’m not saying I’d be happy to give a speech to a large amount of people, let’s not get silly here.
It also helped I was talking about something I was passionate about – the education of front-line medical professionals.
A few of the topics I spoke about included the difference between Ehlers-Danlos Syndrome, Hypermobility Syndrome and Benign Joint Hypermobility Syndrome. A general overview of how many medical professionals and consultants someone with EDS sees before they get a diagnosis, and the fact that it takes 30% of patients over 10 years to receive a diagnosis of EDS and over 20 years to 50% of patients. I also emphasised the fact that 95% of patients remain undiagnosed or misdiagnosed. I also spoke about which conditions are most commonly diagnosed instead of the correct or underlying cause of EDS, and also gave some tips in what not to do when treating or examining someone with the condition. I particularly emphasised that the condition is extremely variable – and that if we can’t come to a session or a few sessions it doesn’t mean we are uninterested, or lazy – just that it’s not what we are able to do at that moment. And it also depends on which areas of our body are a particular problem at the time, one week an exercise might be fine, but the next week dislocate a joint.
I emphasised to them that the way forward is for more frontline professionals to have an understanding of EDS – particularly GPs and physiotherapists who are often the ones patients see first.
No one expects everyone at those two groups to have full knowledge of the condition, when there are so many conditions out there – but it would be brilliant if when presented with a patient with long-term chronic pain, and hypermobility they referred them onto a specialist. Other things that would help patients is long term care, not just the six sessions that are offered on the NHS before being discharged, and the same thing with hydrotherapy, which should be an on-going treatment, particularly as it can be one of the only treatments that is effective for people with EDS.
They seemed interested, engaged with what I was saying, asked questions, and even asked advice on past cases and whether their care was appropriate (whilst maintaining confidentiality of course). One physiotherapist said that in general physiotherapists like regimented care, i.e. they can pick up a file for a patient that says they are currently doing six reps of exercise 1, and 10 of exercise 2, and so on. Any other physiotherapist could then pick up that folder and continue their care if needed. However when he had a previous patient with EDS he found that it was completely impossible to treat him in this way. One week he could do a decent amount, but the next all he could do is lay on a table whilst the physio mobilised his joints for him. Other sessions he couldn’t even make it to the hospital at all. He said that he had to be really flexible with the patient – which emphasised what I was saying.
I also told them about my previous physiotherapy sessions, where I spent the first session explaining how I might not be able to make every session, I was having a lot of flare ups and spending a lot more time in bed unable to do anything and she seemed really understanding. And then it happened, I had to cancel a session and it turned into a few weeks as it was a really bad flare up, and I called to update her and they said just call back when you’re ready, which I did, only to find that she had discharged me.
I was too exhausted to go back to the beginning, so just went without.
Another physio suggested that on occasions like that it would be helpful for the physiotherapist to visit me at home, but of course I’ve never been offered anything like that. Also when talking about ongoing hydrotherapy, which I have been told previously is impossible due to the waiting list – they informed me they do have a few rolling programmes, including one for paediatrics with hypermobility, and another for people with Rheumatoid Arthritis – so it is possible. I’ve now got the name of the manager, and I’m going to contact her and explain how important it is for this to be put into place – particularly when a lot of us are being told that the ‘land based programmes’, as they call them, are inappropriate for us.
Hydrotherapy, for a lot of people with EDS is very good because the water supports the joints, so dislocations are less, the warmth helps with the spasming muscles and we generally find we can do a lot more in the water. Of course this doesn’t apply to everyone, particularly if they have bad POTs alongside, as the heat can cause havoc with feeling faint and dizzy.
In summary I really enjoyed giving this talk, and have been invited back in July.
Patients talking to medical professionals is the way forward t0 them gaining an understanding to the reality of life with a complex condition, without reading a little paragraph in a textbook.
So I commend the physiotherapist that setting this up, and I hope more will do so in the future.
Have you ever has an opportunity to talk to medical staff in this way? What would you have said?
There are lots of these special ‘days’ – Talk Like a Pirate Day (19th Sept), Hairstyle Appreciation Day (30th April) and National Sandwich Day (3rd Nov) but a really important day for me is Rare Disease Day, which is today.
A disease is defined as a condition that’s abnormal, and affects the body of a living being.
Here are some facts about rare diseases:
- There are over 6000 rare diseases
- A disease is classed as rare if it impacts fewer than 1 in 2000 people
- 30 million people live with a rare disease in Europe
- 80% of rare conditions have a genetic origin
I have Ehlers-Danlos Syndrome, a genetic connective tissue disorder.
There are various types of the condition and the most common type is estimated to impact anywhere from 1 in 5000 to 1 in 10,000 and the least common types have only been diagnosed with a small handful of people.
Rare diseases are neglected – in research, care, NHS services and provision of medical expertise. There is a lack of understanding and awareness in every part of the medical community. But rare doesn’t mean we don’t matter.
While I had mild symptoms from birth, the real trouble started when I was 15 – and it took me another eight and a half years to be able to put a name to my pain, fatigue and countless other symptoms. I’m lucky – many others don’t get diagnosed at all. That’s why recognition is vitally important.
Many seeking answers are instead labelled incorrectly. The word hypochondriac sneaks into their medical notes. They’re told their attitude is too negative, or point-blank informed it’s all in their heads. People with the condition usually look perfectly healthy, which makes it even easier to get dismissed.
Some people don’t live long enough to have the reassurance of knowing they were completely right, and there was a reason they felt the way they do like in this awful story.
Once I knew what was wrong with me, it changed everything. I was able to look for the national charities, find other sufferers and do copious amounts of research. Everyone should be able to do that – and from as near to birth as possible. Simple changes like strengthening your muscles before they become locked in a cycle of spasms, wearing orthotics to protect flat feet and looking out for the myriad of complications that can arise from the condition can make a big difference.
Awareness for rare conditions isn’t the same as for many other conditions. To me it can be summed up in the conversation that usually goes,
“So what’s wrong with you?”
And the response is a blank face.
I don’t expect people to know specifics – but if you said to someone you had MS, they’d probably at least gather it’s quite debilitating without having to try to explain further.
While that may not feel so bad – imagine that lack of recognition continues with your GP, your rheumatologist, physiotherapist – the people meant to be supporting your care, as well as everyone else. You have to spell the words out to them carefully, and they promise they’ll look it up – but yet the next time you see them they’re none the wiser, and you know they forgot to pop it into google. We deserve better, and it makes you feel very alone.
When I was diagnosed I spent an hour with the specialist consultant. He was the first person who nodded when I mentioned symptoms, and pointed out a lot I hadn’t even realised were significant. He literally started from when I was born onwards, and put together a pattern that led to my diagnosis.
However, an hour isn’t enough -not when you’ve just been diagnosed with a condition that impacts 95% of your entire body. Every organ, every joint. No one talked me through the heart issues, the gastrointestinal problems, bladder, muscle tone, nervous system, eye sight, breathing issues , and the terrible sleeping problems. No one told me that while you’re given a ‘type’ within the condition – there’s lots of overlap, and it’s mostly just guess work.
To this day I’m still finding new information, and putting facts together – and I usually find that out from other people with the condition, not a medical professional.
So this is what I want from Rare Disease Day…
I want every medical professional to have a brief understanding of the condition, and realise it’s only rare because they aren’t spotting all the undiagnosed people with it. Professor Grahame, a Ehlers-Danlos Syndrome specialist consultant carried out research that suggested “for every one person in England who is diagnosed by a rheumatologist as having hypermobility syndrome, there are probably 19 that aren’t yet diagnosed.” That’s around 85% of cases that are going untreated, being told it’s in their head, or being misdiagnosed. This has to change.
The most common sign of Ehlers-Danlos Syndrome is hypermobile joints – something that should be second nature for GPs/physiotherapists to have a quick look for if someone is presenting with wide-spread pain. I first heard the word hypermobilty from a physiotherapist I was lucky enough to come across. She asked me if I knew I was hypermobile, and I said I didn’t know what she meant. She explained it was also known as being double-jointed, but the only time I’d ever seen people mention that was when people did funny tricks with their hands. My hands looked normal. “Of course you’re hypermobile,” the physiotherapist said to me. “Just look at you, look at your toes, you just are!”
That’s all it takes. One person to have the knowledge. To be able to spot hypermobile joints, to notice the person with pain in every joint that is getting negative results to every test, to the person gesticulating with their hands as they speak, with bruises or injuries they don’t remember getting, that might be a bit clumsy. If you spot just one of those things, just have a think about mentioning Ehlers-Danlos Syndrome and you might change someone’s life.